Arthrogryposis, Renal Dysfunction, And Cholestasis 1(ARCS1) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | VPS33B/26276 | VPS33B late endosome and lysosome associated | 15q26.1 | Chr15, NC_000015.10 (90998416..91022621, complement) |
24206 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | VIPAS39/63894 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | 14q24.3 | Chr14, NC_000014.9 (77426675..77457601, complement) |
30927 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FBN1/2200 | fibrillin 1 | 15q21.1 | Chr15, NC_000015.10 (48408313..48645709, complement) |
237397 nt | 68 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CPAP/55835 | centrosome assembly and centriole elongation protein | 13q12.13 | Chr13, NC_000013.11 (24882279..24934000, complement) |
51722 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities